[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].

Objective: To investigate the clinical phenotype and gene mutation characteristics of MYH9-related disorder (MYH9-RD). Methods: The clinical data of 66 patients with MYH9-RD in the First Affiliated Hospital of Soochow University from January 2010 to December 2022 were retrospectively analyzed. According to the bleeding symptom, the patients were divided into bleeding and non-bleeding group, and according to the mutation sites, the patients were divided into non-muscle myosin heavy chain ⅡA head region (MD) and tail region (TD) mutation group. Statistical analysis was made to explore the clinical features in different groups such as platelet counts, bleeding, renal function, cataracts and hearing as well as MYH9 gene mutations. Results: A total of 66 MYH9-RD patients were included, with 28 males and 38 females, diagnosis age of 1-63(26±2) years. And 41% (27/66) of the patients had no family history. All patients presented with macrothrombocytopenia and normal platelet aggregation(10/10), 92% (54/59) of the patients had visible blue inclusion bodies in neutrophils, 30% (20/66) had bleeding symptoms, 45% (22/49) had proteinuria or glomerulonephropathy, 20% (8/41) had bilateral hearing impairment, and 10% (4/42) had bilateral cataracts. 18 mutation sites were identified in total, including 15 missense, 1 splicing and 2 termination mutations. Among them, p.Asp1424Asn, p.Arg1933* and p.Arg702His/Cys mutations were identified in 56% (29/52) of the patients, and p.Ser96Leu, Arg1165Cys and p.Glu1841Lys mutations were recurrent mutations, while p.Ala44Thr, p.Asp1447Ala and c.3838-2A>G mutations were novel mutations. The average platelet count of patients in bleeding group was (19±3)×109/L, which was significantly less than (36±3)×109/L in non-bleeding group (P<0.001). Compared with TD mutation group, patients of MD mutation group were presented with lower platelet count and higher risk of bleeding, as well as more severe clinical presentations including renal and hearing impairment and cataracts (all P<0.05). Conclusion: Mutations of p.Asp1424Asn, p.Arg1933* and p.Arg702His/Cys in MYH9 gene are hotspot mutations for MYH9-RD patients, Compared with TD mutation group, patients of MD mutation group were presented with lower platelet count and higher risk of bleeding, as well as more severe clinical presentations including renal and hearing impairment and cataracts.

[Comparative study of ultrasound and magnetic resonance imaging in the diagnosis of asymptomatic anterosuperior acetabular labrum tears].

OBJECTIVE: To explore the diagnostic value of ultrasound for asymptomatic anterosuperior acetabular labral tears (ALT). METHODS: From August 2018 to February 2020, a total of 64 asymptomatic volunteers (101 hips) were recruited to complete 3.0T magnetic resonance imaging (MRI) and ultrasound examination. Among these asymptomatic volunteers, 31 were male and 33 were female, with the median age 35 (32, 39) years. Using 3.0T MRI findings as golden standard, the sensitivity, specificity, positive predictive value, negative predictive value and accuracy of ultrasound were calculated. RESULTS: The results showed the presence of unilateral or bilateral ALT in 33 (51.56%) asymptomatic vo-lunteers with a total of 47 hips (46.53%). Of the 37 asymptomatic volunteers with bilateral hip MRI examination, 14 had bilateral ALT and 8 had unilateral ALT. Of the 27 asymptomatic volunteers who underwent unilateral hip MRI, 11 had ALT. Of the 33 asymptomatic volunteers with labral tears, 11 were male and 22 were female, with 30 right hips and 17 left hips. The median age was 36 (33, 40) years in the ALT group and 34 (32, 38) years in the non-ALT group. There was no significant difference in age between the two groups (P > 0.05). In the asymptomatic population, the abnormal anterosuperior acetabular labrum manifestations on ultrasound were intra-labrum cleft in 26 cases, labral heterogeneous echogenicity in 25 cases, paralabral cysts in 2 cases, and labral focal hyperechoic area in 12 cases. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy for ALT diagnosed by ultrasound were 73.53%, 67.16%, 53.19%, 83.33% and 69.31%, respectively. The cross- sectional area (CSA) of the anterosuperior acetabular labrum was 0.20 (0.15, 0.24) cm2 in this study. The labral median CSA of the ALT group and non-ALT group were 0.22 (0.17, 0.28) cm2 and 0.17 (0.14, 0.21) cm2, respectively, with a statistically significant difference (P < 0.001). CONCLUSION: The ALT are common findings in asymptomatic volunteers on MRI. Intra-labrum cleft and labral heterogeneous echogenicity are common ultrasonographic signs in asymptomatic volunteers with ALT. The labra were more swollen in the asymptomatic volunteers with ALT compared to those without ALT.

Theoretical insights into the defect performance of the wide bandgap semiconductor BaS.

Wide bandgap semiconductors materials (WBGSMs) are of great interest for their applications in transparent electronics and power electronics. Recent studies have shown that BaS is a potential transparent conducting material but the knowledge of it is deficient. Herein, we systemically investigate its electronic structure and evaluate the effects of its intrinsic defects and extrinsic dopants by utilizing the hybrid density functional method. The obtained results show that BaS is an indirect bandgap semiconductor with a bandgap of 3.88 eV. Its electron-effective mass is very small (0.33 m0). We find that the intrinsic n-type conductivity of BaS is connected with the shallow donor defect sulfur vacancy (VS). Regarding extrinsic dopants (group IA atoms), we find that Li and Na are favorable n-type dopants, while K and Rb are p-type dopants. Among these impurities, the Li interstitial (Liint) configuration possesses the lowest formation energy of 0.114 eV. Based on thermodynamic simulations, we find that the electron density can reach 2.39 × 1020 cm-3 in Li-doped BaS at room temperature, which is comparable to those of typical WBGSMs In2O3, BaSnO3, and ß-Ga2O3. We expect BaS could replace typical WBGSMs in some applications. Moreover, its component elements Ba and S are non-toxic, cheap, and earth-abundant, making it a very competitive candidate for WBGSMs. Based on these results, we deem BaS a promising candidate for optoelectronic applications.

Pyroelectric effect mediated infrared photoresponse in Bi2Te3/Pb(Mg1/3Nb2/3)O3-PbTiO3 optothermal ferroelectric field-effect transistors.

The responses of material properties to multi-field stimulation are often exploited to construct new types of multi-functional devices. Here, we demonstrate electrical, optical and thermal modulation of the electronic properties of optothermal ferroelectric field-effect transistors (FeFETs) which are fabricated by growing Bi2Te3 films on (111)-oriented 0.71Pb(Mg1/3Nb2/3)O3-0.29PbTiO 3 (PMN-PT) ferroelectric single-crystal substrates. Using the electric field to switch the polarization direction of PMN-PT, the carrier density and resistance of Bi2Te3 films are in situ, reversibly, and nonvolatilely modulated via the ferroelectric field effect. Moreover, through infrared light illumination on the bottom of PMN-PT substrates, the resistance of Bi2Te3 films in two polarization states could be further modulated, which is ascribed to the decreased polarization intensity at higher temperature due to the pyroelectric effect. Taking advantage of these two effects, the Bi2Te3/PMN-PT optothermal FeFETs exhibit multiple responses to optical and electric field stimulation at room temperature. Our work provides a strategy to design optoelectronic devices with both photodetector and memory functionalities.

[Arthroscopic labrum reconstruction for femoroacetabular impingement syndrome: 12 cases report].

To investigate the surgical effect of hip arthroscopic labrum reconstruction. A retrospective study was performed on the clinical data of 12 patients who underwent hip arthroscopic labrum reconstruction in our department from September 2017 to February 2021 and were followed up for 5-46 months, with an average of 21.5 months. All the patients had a hip joint space of more than 2 mm, and Tonnis grade less than level Ⅱ. These 12 patients underwent arthroscopic debridement of hyperplastic synovium, femoral head and neck and/or acetabular osteoplasty, and labrum reconstruction using autograft iliotibial band or gracilis tendon. After the surgery, we conducted follow-up and data collection, recorded the satisfaction of the patients and occurrence of complications, as well as the cartilage lesion of hip joint observed under the arthroscopy. We compared the alpha angle of Dunn X-ray film, center-edge angle (CE angle) of AP X-ray film, modified Harris hip score (mHHS score), hip outcome score (HOS), international hip outcome tool 12 score (iHOT12 Score), and visual analogue scale (VAS scale) before and after the arthroscopic operation, to assess clinical symptom relief and joint function recovery. The 12 patients were followed up for 5-46 (21.5±12.8) months. The VAS scale were (5.3±2.5) and (2.5±1.4) before and after the surgery, showing significant decrease (P=0.018). The mHHS score were (60.6±22.2) and (83.1±5.8) before and after the surgery, showing significant increase (P=0.003). The patient satisfaction was high (7.8±2.0) (range: 0-10). None of the 12 patients had serious complications, revision surgery, or total hip replacement at the end of the last follow-up. Autologous tendon transplantation for reconstruction of acetabular labrum under arthroscopy can improve the clinical symptoms and joint function of patients with femoroacetabular impingement (FAI), which is a safe and effective treatment.

[Application of ultrasound-guided hip joint drug injection in the postoperative rehabilitation of arthroscopie repair of acetabular labral tears].

OBJECTIVE: To explore the clinical application of ultrasound-guided hip joint drug injection in the postoperative rehabilitation of arthroscopie repair of acetabular labral tears. METHODS: This research retrospectively analyzed a total of 38 hips from 36 patients (2 of them were bilateral) whose imaging examination showed acetabular labral well healed but the rehabilitating training was limited due to hip pain after arthroscopie repair of acetabular labral tears in our hospital between June 2015 and May 2017. All the patients underwent ultrasound-guided hip joint drug injection treatment. Through comparing the pain and the function of hip before and after drug injection, the clinical application values of ultrasound-guided hip joint drug injection in the postoperative rehabilitation of arthroscopie repair of acetabular labral tears were explored. The degree of hip pain was assessed by visual analogue score (VAS), which were scored before and after the injection. The hip function was assessed by the hip range of activity. The SPSS 21.0 statistical software was used for the data analysis. The effective rate of hip injection was calculated, which was defined as: ("excellent" + "good")/total number of cases×100%. The degree of hip pain was assessed by VAS, which was divided into 0 to 10 points with 0 for no pain and 10 for unbearable severe pain. The function of hip was assessed by the hip range of activity. The therapeutic effect of "excellent" meant no pain or occasional slight pain in the hip, along with Patrick test was negative and hip joint was not limited; the therapeutic effect of "good" meant that the pain was significantly reduced, and the hip's activity was slightly restricted. "No effect" meant that the pain of hip was not relieved, and the Patrick test was positive. RESULTS: The VAS score of the patient before drug injection was 5.46±1.46, and the VAS score was 2.01±0.53 after drug injection 4 weeks later. The score of the latter was significantly lower than that of the former, and the difference was statistically significant (P<0.05). The hip joint activity after ultrasound-guided hip joint drug injection was significantly improved. The therapeutic effective rate was 84.2%. CONCLUSION: For patients with hip pain and limitations after arthroscopie repair of acetabular labral tears, ultrasound-guided drug injection can effectively reduce hip pain, improve hip activity, and promote hip functional reconstruction.

Thermoelectric properties of monolayer MSe2 (M = Zr, Hf): low lattice thermal conductivity and a promising figure of merit.

Monolayer transition-metal dichalcogenides (TMDCs) MX2 (M = Mo, W, Zr, Hf, etc; X = S, Se, Te) have become well-known in recent times for their promising applications in thermoelectrics and field effect transistors. In this work, we perform a systematic study on the thermoelectric properties of monolayer ZrSe2 and HfSe2 using first-principles calculations combined with Boltzmann transport equations. Our results point to a competitive thermoelectric figure of merit (close to 1 at optimal doping) in both monolayer ZrSe2 and HfSe2, which is markedly higher than previous explored monolayer TMDCs such as MoS2 and MoSe2. We also reveal that the higher figure of merits arise mainly from their low lattice thermal conductivity, and this is partly due to the strong coupling of acoustic modes with low frequency optical modes. It is found that the figure of merits can be better optimized in n-type than in p-type. In particular, the performance of HfSe2 is superior to ZrSe2 at a higher temperature. Our results suggest that monolayer ZrSe2 and HfSe2 with lower lattice thermal conductivity than usual monolayer TMDCs are promising candidates for thermoelectric applications.

The integrated spintronic functionalities of an individual high-spin state spin-crossover molecule between graphene nanoribbon electrodes.

The spin-polarized transport properties of a high-spin-state spin-crossover molecular junction with zigzag-edge graphene nanoribbon electrodes have been studied using density functional theory combined with the nonequilibrium Green's-function formalism. The molecular junction presents integrated spintronic functionalities such as negative differential resistance behavior, spin filter and the spin rectifying effect, associated with the giant magnetoresistance effect by tuning the external magnetic field. Furthermore, the transport properties are almost unaffected by the electrode temperature. The microscopic mechanism of these functionalities is discussed. These results represent a step toward multifunctional molecular spintronic devices on the level of the individual spin-crossover molecule.

Preserving the half-metallicity at the surfaces of rocksalt CaN and SrN and the interfaces of CaN/InN and SrN/GaP: a density functional study.

Recent theoretical studies indicate that metastable rocksalt CaN, SrN, and BaN exhibit half-metallic ferromagnetism (Volnianska and Boguslawski 2007 Phys. Rev. B 75 224418; Gao et al 2008 Phys. Lett. A 372 1512), and further experiments confirm the existence of self-assembled metastable CaN nanostructures (Liu et al 2008 Surf. Sci. 602 1844). We here use the first-principles method based on density functional theory to investigate the structural, electronic, and magnetic properties of the (111) surfaces of CaN and SrN and the interfaces of CaN/InN(111) and SrN/GaP(111). The surface stability from the calculated surface energy indicates that the N-terminated (111) surface is more stable than the Ca (Sr)-terminated (111) surface in the N-rich environment. For CaN and SrN, both anion- and cation-terminated (111) surfaces preserve the half-metallic characteristics of the bulk. Interfacial studies indicate that the half-metallicity of bulk CaN is retained in two of the four possible configurations of the CaN/InN(111) interface, while for the interface of SrN/GaP(111) only one interfacial configuration shows half-metallicity. Furthermore, we assess the interfacial adhesive strength for all the possible different configurations of the interfaces studied here by calculating the interface adhesion energies.

First-principles study of the ferroelectric and nonlinear optical properties of the LiNbO3-type ZnSnO3.

Electronic structures, spontaneous polarization, dynamical and nonlinear optical (NLO) properties of polar oxide ZnSnO(3) with LiNbO(3) (LN)-type structure have been investigated in the framework of density functional theory. By analyzing the Born effectives of LN-type ZnSnO(3), we find that Z* of Zn atoms show relatively large anomalous behavior. The spontaneous polarization is attributed to the large displacement of Zn atoms because of the mixed ionic-covalent character between the Zn-O bonds. The optical dielectric tensor is nearly the same; however the static dielectric tensor shows strongly anisotropy. Furthermore, the nonlinear optical properties are calculated by using 2n + 1 theorem applied to an electric-field dependent energy functional. The large dielectric constants and NLO susceptibilities indicate that the LN-type ZnSnO(3) would be a candidate as a high-performance dielectric and nonlinear optical material.

First-principles calculations: half-metallic Au-V(Cr) quantum wires as spin filters.

The half-metallic behavior of Au-V(Cr) quantum wires adsorbed on an armchair (5, 5) boron nitride nanotube is obtained by performing spin-polarized density functional calculations. The density of states shows a metallic property at the Fermi level for the majority spin channel and a semiconductor gap in the minority spin channel. The half-metallic behavior of the quantum wire/nanotube complex originates from the half-metallic behavior of the free-standing Au-V(Cr) quantum wires. The calculations of spin-polarized transport indicate that such a one-dimensional half-metallic magnet can be used as a spin filter.

Bulk and surface sp half-metallic ferromagnetism in alkali metal pnictides with rocksalt structure: a first-principles calculation.

Recently, sp half-metallic ferromagnetism in alkali metal/alkaline earth pnictides (I/II-V) with zinc blende structure was predicted by first-principles calculations (Sieberer et al 2006 Phys. Rev. B 73 024404). To search for half-metallic ferromagnets with a more stable structure in alkali metal pnictides MX (M  = Li, Na, K; X =  N, P, As), we apply here first-principles all-electron and pseudopotential-method-based density functional theory to investigate the electronic and magnetic properties of these compounds with rocksalt structure. Five rocksalt compounds are found to be half-metallic ferromagnets with a magnetic moment of 2.00 µ(B)/f.u., and they are more stable energetically than the ones with zinc blende structure, which makes them more promising candidates for the possible growth of half-metallic films or ultrathin films on suitable semiconductor substrates. Furthermore, we show that both lithium- and nitrogen-terminated (111) surfaces of rocksalt lithium nitride retain the bulk half-metallic characteristic, and the surface atomic magnetic moments are enhanced compared to the bulk values.

Search for new half-metallic ferromagnets in zinc blende CaSi and CaGe by first-principles calculations.

We present an investigation on the electronic structure and ferromagnetism for the hypothetical zinc blende (ZB) CaSi and CaGe by using first-principles full-potential linearized augmented plane-wave (FP-LAPW) calculations. It is found that ZB CaSi and CaGe are half-metallic (HM) ferromagnets without any transition-metal component; they have a magnetic moment of 2.000 µ(B) per formula unit. Analysis of the density of states and magnetic moment indicates that their magnetism mainly originates from the spin polarization of anion p states and the hybridization between the anion p states and the Ca d states. We also find that the half-metallicity can be maintained even when the lattice constant of ZB CaSi and CaGe is compressed up to 8% and 5%, respectively. The absence of the transition-metal atoms makes ZB CaSi and CaGe attractive not only as materials for possible spintronics devices but also as model objects for the study of new mechanisms of the formation of half-metallic ferromagnetism in s-p electron systems.

Novel dimeric alkaloids from the roots of Thalictrum atriplex.

Two new bisbenzylisoquinoline alkaloids, neothalfine (1) and thaliatrine (2), together with three known dimeric alkaloids, thalifaberine, thalistine, and thalirecebine, have been isolated from the roots of Thalictrum atriplex Finet et Gagnep. Their structures have been established by spectroscopy. Compound 1 showed in vitro antiplatelet aggregation activities.

Synthesis of potential antidipsotropic isoflavones: inhibitors of the mitochondrial monoamine oxidase-aldehyde dehydrogenase pathway.

Recently we have shown that daidzin, the major active principle of an ancient herbal treatment for "alcohol addiction", suppresses ethanol intake in alcohol-preferring laboratory animals. Further, we have identified the monoamine oxidase (MAO)-aldehyde dehydrogenase (ALDH-2) pathway of the mitochondria as the potential site of action of daidzin. Daidzin analogues that potently inhibit ALDH-2 but have no or little effect on MAO are most antidipsotropic, whereas those that also inhibit MAO exhibit little, if any, antidipsotropic activity. Therefore, in the design and synthesis of more potent antidipsotropic analogues, structural features important for the inhibition of both ALDH-2 and MAO must be taken into consideration. To gain further information on the structure-activity relationships at the inhibitor binding sites of ALDH-2 and MAO, we prepared 44 analogues of daidzin and determined their potencies for ALDH-2 and MAO inhibition. Results indicate that a sufficient set of criteria for a potent antidipsotropic analogue is an isoflavone with a free 4'-OH function and a straight-chain alkyl substituent at the 7 position that has a terminal polar function such as -OH, -COOH, or -NH(2). The preferable chain lengths for the 7-O-omega-hydroxy, 7-O-omega-carboxy, and 7-O-omega-amino subsitutents are 2 < or = n < or = 6, 5 < or = n < or = 10, and n > or = 4, respectively. Analogues that meet these criteria have increased potency for ALDH-2 inhibition and/or decreased potency for MAO inhibition and therefore are likely to be potent antidipsotropic agents.

Aquiledine and isoaquiledine, novel flavonoid alkaloids from Aquilegia ecalcarata.

Two new flavonoid alkaloids, aquiledine (1) and isoaquiledine (2), were isolated from the whole herb of Aquilegia ecalcarata, and their structures were determined by detailed spectral analysis. Three known flavonoids were also isolated from this extract-apigenin, apigenin-7,4'-dimethyl ether, and luteolin-and have not been reported previously from A. ecalcarata.

[Studies on the chemical constituents from Aquilegia ecalcarata Maxim].

OBJECTIVE: To study the chemical constituents from Aquilegia ecalcarata. METHOD: Compounds were isolated with silica gel and polyamide chromatography and their structures were determined by spectral analysis and chemical evidence. RESULT: Five compounds were obtained and identified as beta-sitosterol, isoorientin-7-O-glucoside, isovitexin-4'-O-glucoside, isovitexin-2'-O-rhamnoside, luteolin-7-O-glucoside. CONCLUSION: All the compounds were isolated from this plant for the first time.